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Neurofibromatosis type 1 and associated malignancies

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Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous disorder with a predisposition to the development of benign and malignant tumors. Mutations in the NF1 gene result in loss of function of neurofibromin, a guanosine triphosphatase-activating protein that helps maintain the proto-oncogene Ras in its inactive form. Loss of neurofibromin results in increased proliferation and tumorigenesis. As a result, people with NF1 are at increased risk for the development of nervous and non-nervous system malignancies. Malignancy is a major source of morbidity and mortality in NF1. The natural history of NF1-associated malignancies is often different than that of their sporadic counterparts and, as such, management strategies need to be adjusted accordingly.

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  1. Division of Child Neurology, Department of Pediatrics, Weill Cornell Medical College, New York-Presbyterian Hospital, 525 East 68th Street, Box 91, New York, NY, 10065, USA

    Kaleb Yohay

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  1. Kaleb Yohay
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Yohay, K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep 9, 247–253 (2009). https://doi.org/10.1007/s11910-009-0036-3

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